SNP Detail For rs867186
1.Mapping Information
Human SNP ID rs867186
Human chromosome chr20
Human SNP position 35176751
Pig chromosome chr17
Pig SNP position 43733891
2.Annotation Information
PubMed ID20802025
JournalBlood
Linkwww.ncbi.nlm.nih.gov/pubmed/20802025
StudyGenome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
Disease/TraitProtein C levels
Initial sample8,048 European ancestry individuals
Replication sample1,376 European ancestry individuals
Region20q11.22
Chromosome idchr20
Chromosome position35176751
Reported genePROCR
Mapped genePROCR
Upstream gene id
Downstream gene id
SNP gene ids10544
Upstream gene distance
Downstream gene distance
SNP risk allelers867186-C
SNPsrs867186
Merged0
SNP id current867186
Contextmissense_variant
Intergenic0
Allele frequency0.1
P value2E-200
Pvalue mlog199.698970004336
P value text
Or beta0.47
%95 Ci[0.44-0.50] ug/ml increase
PlatformAffymetrix [2461269]
CNVN
Mapped traitprotein C measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004633
Study accessionGCST000780
PubMed ID21502573
JournalCirculation
Linkwww.ncbi.nlm.nih.gov/pubmed/21502573
StudyGenetic predictors of fibrin D-dimer levels in healthy adults.
Disease/TraitD-dimer levels
Initial sample21,052 European ancestry individuals
Replication sampleNA
Region20q11.22
Chromosome idchr20
Chromosome position35176751
Reported genePROCR
Mapped genePROCR
Upstream gene id
Downstream gene id
SNP gene ids10544
Upstream gene distance
Downstream gene distance
SNP risk allelers867186-G
SNPsrs867186
Merged0
SNP id current867186
Contextmissense_variant
Intergenic0
Allele frequency0.091
P value0.000004
Pvalue mlog5.39794000867203
P value text
Or beta0.0484
%95 Ci[NR] % increase
PlatformAffymetrix, Illumina [2522393] (imputed)
CNVN
Mapped traitD dimer measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004507
Study accessionGCST001049
PubMed ID22216198
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/22216198
StudyA genome-wide association study of the Protein C anticoagulant pathway.
Disease/TraitAnticoagulant levels
Initial sample397 European ancestry individuals from 21 families
Replication sampleNA
Region20q11.22
Chromosome idchr20
Chromosome position35176751
Reported genePROCR
Mapped genePROCR
Upstream gene id
Downstream gene id
SNP gene ids10544
Upstream gene distance
Downstream gene distance
SNP risk allelers867186-G
SNPsrs867186
Merged0
SNP id current867186
Contextmissense_variant
Intergenic0
Allele frequency0.077
P value0.000000004
Pvalue mlog8.39794000867203
P value text(PC)
Or beta0.845
%95 Ci[NR] SD increase
PlatformIllumina [283437]
CNVN
Mapped traitprotein C measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004633
Study accessionGCST001365
PubMed ID22443383
JournalBr J Haematol
Linkwww.ncbi.nlm.nih.gov/pubmed/22443383
StudyGenome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
Disease/TraitHemostatic factors and hematological phenotypes
Initial sample951 European ancestry individuals
Replication sampleNA
Region20q11.22
Chromosome idchr20
Chromosome position35176751
Reported genePROCR
Mapped genePROCR
Upstream gene id
Downstream gene id
SNP gene ids10544
Upstream gene distance
Downstream gene distance
SNP risk allelers867186-G
SNPsrs867186
Merged0
SNP id current867186
Contextmissense_variant
Intergenic0
Allele frequency0.1
P value0.000002
Pvalue mlog5.69897000433601
P value text(ACVn ratio)
Or beta0.37
%95 Ci[0.21-0.53] unit increase
PlatformIllumina [472123]
CNVN
Mapped traithematological measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004503
Study accessionGCST001378
PubMed ID25376901
JournalGenet Epidemiol
Linkwww.ncbi.nlm.nih.gov/pubmed/25376901
StudyGenetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study.
Disease/TraitProtein C levels
Initial sample2,701 African American individuals
Replication sampleNA
Region20q11.22
Chromosome idchr20
Chromosome position35176751
Reported genePROCR
Mapped genePROCR
Upstream gene id
Downstream gene id
SNP gene ids10544
Upstream gene distance
Downstream gene distance
SNP risk allelers867186-C
SNPsrs867186
Merged0
SNP id current867186
Contextmissense_variant
Intergenic0
Allele frequency0.09
P value1E-64
Pvalue mlog64
P value text
Or beta0.49
%95 Ci[0.43-0.55] unit increase
PlatformAffymetrix [2649157]
CNVN
Mapped traitprotein C measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004633
Study accessionGCST002686
PubMed ID20231535
JournalCirculation
Linkwww.ncbi.nlm.nih.gov/pubmed/20231535
StudyNovel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.
Disease/TraitFactor VII levels
Initial sample15,422 European ancestry individuals
Replication sampleUp to 7,604 European ancestry individuals
Region20q11.22
Chromosome idchr20
Chromosome position35176751
Reported genePROCR
Mapped genePROCR
Upstream gene id
Downstream gene id
SNP gene ids10544
Upstream gene distance
Downstream gene distance
SNP risk allelers867186-?
SNPsrs867186
Merged0
SNP id current867186
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value6E-37
Pvalue mlog36.2218487496163
P value text
Or beta
%95 Ci
PlatformAffymetrix, Illumina [2734954] (imputed)
CNVN
Mapped traitfactor VII measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004619
Study accessionGCST000625
PubMed ID22443383
JournalBr J Haematol
Linkwww.ncbi.nlm.nih.gov/pubmed/22443383
StudyGenome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
Disease/TraitHemostatic factors and hematological phenotypes
Initial sample951 European ancestry individuals
Replication sampleNA
Region20q11.22
Chromosome idchr20;20;20;20
Chromosome position35157873;35176751;35165459;34957813
Reported geneGSS, EDEM2, PROCR
Mapped geneEDEM2 - PROCR; PROCR; EDEM2 - PROCR; MYH7B
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers6088735-?; rs867186-?; rs6060278-?; rs17310467-?
SNPsrs6088735; rs867186; rs6060278; rs17310467
Merged0
SNP id current
Contextintergenic_variant; missense_variant; intergenic_variant; upstream_gene_variant
Intergenic
Allele frequency0.105
P value4E-34
Pvalue mlog33.397940008672
P value text(PC levels)
Or beta19.273
%95 Ci[16.174-22.372] iu/ml increase GCTG
PlatformIllumina [472123]
CNVN
Mapped traitprotein C measurement, hematological measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004633, http://www.ebi.ac.uk/efo/EFO_0004503
Study accessionGCST001378